ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825129512
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
457708
ClinVar RCV Id:
RCV000555162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Pro1528Ala
CA399000341
NM_000267.3:c.4582C>G